Congenital insensitivity to pain with anhidrosis
<p>Heterogeneity of clinical features and mutation analysis of <em>NTRK1</em> in Han Chinese patients with congenital insensitivity to pain with anhidrosis</p>
... including pain insensitivity, temperature sensation, and complications, were ...“visceral pain” sensation, and there was a significant difference in temperature perception and thermal pain ...
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An Infant With Primary Tooth Loss and Palmar Hyperkeratosis: A Novel Mutation in the NTRK1 Gene Causing Congenital Insensitivity to Pain With Anhidrosis
... with congenital insensitivity to pain and anhidrosis (CIPA), caused by mutations in the NTRK1 gene, can be difficult to diagnose because of their variable presentation, the lack of simple ...
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Renal Amyloidosis Following Chronic Osteomyelitis in a Patient with Congenital Insensitivity to Pain and Anhidrosis
... Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and au- tonomic ...of pain and temperature, anhi- drosis and intellectual ...
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Vol 24, No 3 (2014)
... 2. Schalka MM, Corrêa MS, Ciamponi AL. Congenital insensitivity-to-pain with anhidrosis (CIPA): a case report with 4-year follow-up. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. ...
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Case Report No mutation in NTRK1 or NGF in a Chinese patient with hereditary sensory and autonomic neuropathy type IV
... or congenital insensitivity to pain with anhidrosis (CIPA), is a rare autosomal recessive disease which is characterized by childhood onset of a lack of pain sensation, ...
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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
... bp: Base pair; CIPA: Congenital insensitivity to pain with anhidrosis; CNV: Copy number variation; FD: Familial dysautonomia; HH: Hereditary hemochromatosis; HPO: The human phenotype ont[r] ...
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Pain Insensitivity Syndrome Misinterpreted as Inflicted Burns
... ing pain, we conducted a thorough medical examination and laboratory testing, evaluated detection and pain thresholds, and used MRI to study brain morphology and brain activation patterns during pain ...
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Three siblings with complete androgen insensitivity syndrome
... A 27-year old woman presented with primary amenorrhoea and infertility. On examination, she was found to have palpable inguinal gonads, normal female external genitalia, a blind-ending vagina with no cervix, almost ...
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Regional Implementation of a Pediatric Cardiology Chest Pain Guideline Using SCAMPs Methodology
... chest pain at Boston Children ’ s Hospital (BCH) or the New England Congenital Cardiology Association (NECCA) practices, were evaluated by using a SCAMPs chest pain ...chest pain due to a ...
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Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study
... domain. Of importance, no abnormalities were observed in the mental domain despite a high frequency of some- times severe anxiety (Fig. 3). Our patients all had very early childhood diagnosis and had lived with their ...
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Androgen insensitivity revealed by surgery in elderly identical twins
... As in cryptorchidia, the testes of patients with androgen insensitivity are prone to malignant transformation. The risk of developing a malignant germ cell tumor (seminoma) rises from 3% at age 20 to 30% at age 50 ...
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Cellular basis of insulin insensitivity in large rat adipocytes
... However, under conditions of 0.2 mM medium glucose where transport of the hexose into adipocytes is relatively more rate-limiting for subsequent metabolism, large cells actually utilized[r] ...
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Features for damage detection with insensitivity to environmental and operational variations
... Although very encouraging results have been obtained, it is interesting to note that avoidance of a small anomaly in the features created was achieved by either considering a subset of t[r] ...
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Rescuing Political Theory From Fact-Insensitivity
... more pain was inflicted than necessary, there being no other means of attaining the necessary information rapidly enough to locate the bomb before it exploded with what would be the consequence of killing many ...
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A Diagnostic Pitfall in a Patient with Acute Abdominal Pain: Congenital Hydronephrosis/Hydroureter Misdiagnosed as Hydrosalpinx
... abdominal pain in a woman (pregnant or otherwise) of reproductive age may rea- sonably lead to differential diagnosis of adnexal pathology including torsion of hydrosalpinx and ...
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Androgen Insensitivity Syndrome: Drawbacks of the Medical Services
... Androgen Insensitivity syndrome (AIS), the largest single entity which is a rare sex-linked recessive inheritance formerly referred to as Testicular Feminization Syndrome (TFS) or Morris syndrome is a form of a ...
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<p>Practical approach to a patient with chronic pain of uncertain etiology in primary care</p>
... chronic pain, data collection and reporting methods and differences in the prevalence of contributing factors (eg, psychological trauma, socioeconomic status and interpersonal violence) between countries pose ...
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Does self-perception of sensitivity to pain correlate with actual sensitivity to experimental pain?
... self-perceived pain sensitivity ...experimental pain training session was held, aimed at familiarizing participants with the different pain ...experimental pain tests were conducted 10 minutes ...
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Association between early prenatal exposure to ambient air pollution and birth defects: evidence from newborns in Xi’an, China
... How exactly the ambient air pollutants affected the development of certain malformations remain unclear. However, several possible mechanisms have been hypothesized, including oxidative stress, anoxic events, placental ...
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Newborn Screening Fact Sheets
... deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A ...
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